HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein

Approved

Classifications

MinEdu publication type
A1 Journal article (peer-reviewed)
Definition
Article
Target group
Scientific
Peer reviewed
Peer-reviewed
Article type
Journal article
Host publication type
Journal

Authors of the publication

Number of authors
22
Authors
Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti; Jamshidi, Yalda; Karimiani, Ehsan G; Komulainen-Ebrahim, Jonna; Kallankari, Hanna; Mignot, Cyril; Depienne, Christel; Keren, Boris; Nougues, Marie-Christine; Alsahlawi, Zahra; Romito, Antonio; Martini, Javier; Toosi, Mehran B; Carroll, Christopher J; Tripolszki, Kornelia; Bauer, Peter; Uusimaa, Johanna; Bertoli-Avella, Aida M; Koivunen, Peppi; Rahikkala, Elisa

Publication channel information

Title of journal/series
Clinical genetics
ISSN (print)
0009-9163
ISSN (electronic)
1399-0004
ISSN (linking)
0009-9163
Publisher
Munksgaard
Publication forum ID
53581
Publication forum level
1
Country of publication
United Kingdom
Internationality
Yes

Detailed publication information

Publication year
2022
Reporting year
2022
Journal/series volume number
102
Journal/series issue number
5
Page numbers
444-450
DOI
10.1111/cge.14203
Language of publication
English

Co-publication information

International co-publication
Yes
Co-publication with a company
No

Availability

Link to online publication
https://doi.org/10.1111/cge.14203
Link to self-archived version
http://urn.fi/urn:nbn:fi-fe2022120970244

Classification and additional information

MinEdu field of science classification
3111 Biomedicine
Keywords
HIDEA; P4HTM; genes; intellectual disability; recessive

Research data information

Research data information in the publication
The data that supports the findings of this study are available in thesupplementary material of this article.

Source database ID

WoS ID
WOS:000842337300001
Scopus ID
2-s2.0-85136454705
Other database ID
PMID: 35908151